ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3593G>A (p.Arg1198Gln)

gnomAD frequency: 0.00010  dbSNP: rs200322331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245324 SCV001418605 uncertain significance not provided 2022-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1198 of the ELP1 protein (p.Arg1198Gln). This variant is present in population databases (rs200322331, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 969880). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002480834 SCV002776699 uncertain significance Medulloblastoma; Familial dysautonomia 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619585 SCV005112557 uncertain significance not specified 2024-03-19 criteria provided, single submitter clinical testing The c.3593G>A (p.R1198Q) alteration is located in exon 34 (coding exon 33) of the IKBKAP gene. This alteration results from a G to A substitution at nucleotide position 3593, causing the arginine (R) at amino acid position 1198 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277366 SCV001464313 uncertain significance Familial dysautonomia 2020-08-21 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.